Evidence map›Paper›PMID 22733215›Full record

ReviewNature reviews. Cardiology2012

Inherited calcium channelopathies in the pathophysiology of arrhythmias.

Luigi Venetucci, Marco Denegri, Carlo Napolitano, Silvia G Priori

Abstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Cardiology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 103 papers.

0numbers the graph read from it
0cells of the map it votes in
103citing papers in PubMed
12.5field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

103 citing papers in PubMed, 179 citations in OpenAlex.

  1. Atropine-induced sinus tachycardia protects against exercise-induced ventricular arrhythmias in patients with catecholaminergic polymorphic ventricular tachycardia.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2020
    Trial
  2. An RYR2-interacting fragment of MYBPC3 mitigates arrhythmia in human iPSC-CM and mouse models of CPVT.Molecular therapy : the journal of the American Society of Gene Therapy · 2026
    Article
  3. Review
  4. VMP1 forms a CaScience advances · 2026
    Article
  5. Article
  6. Calcium release channel deficiency syndrome in patients diagnosed with idiopathic ventricular fibrillation and decedents classified as sudden unexplained death in the young.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2026
    Article
  7. Review
  8. Proteostasis and Its Role in Disease Development.Cell biochemistry and biophysics · 2025
    Review
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  13. Review
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  20. Store-Operated CaJournal of clinical medicine · 2023
    Review

43 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 1 institution in 1 country.

Luigi VenetucciMolecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Via Maugeri 10/10a, Pavia 27100, Italy.
Marco Denegri
Carlo Napolitano
Silvia G Priori
Fondazione Salvatore Maugeri · IT

Funding

British Heart Foundation FS/10/63/28374British Heart Foundation FS10/63/28,374Telethon GGP11141
6 · The paper itself

Abstract

Regulation of calcium flux in the heart is a key process that affects cardiac excitability and contractility. Degenerative diseases, such as coronary artery disease, have long been recognized to alter the physiology of intracellular calcium regulation, leading to contractile dysfunction or arrhythmias. Since the discovery of the first gene mutation associated with catecholaminergic polymorphic ventricular tachycardia (CPVT) in 2001, a new area of interest in this field has emerged--the genetic abnormalities of key components of the calcium regulatory system. Such anomalies cause a variety of genetic diseases characterized by the development of life-threatening arrhythmias in young individuals. In this Review, we provide an overview of the structural organization and the function of calcium-handling proteins and describe the mechanisms by which mutations determine the clinical phenotype. Firstly, we discuss mutations in the genes encoding the ryanodine receptor 2 (RYR2) and calsequestrin 2 (CASQ2). These proteins are pivotal to the regulation of calcium release from the sarcoplasmic reticulum, and mutations can cause CPVT. Secondly, we review defects in genes encoding proteins that form the voltage-dependent L-type calcium channel, which regulates calcium entry into myocytes. Mutations in these genes cause various phenotypes, including Timothy syndrome, Brugada syndrome, and early repolarization syndrome. The identification of mutations associated with 'calcium-handling diseases' has led to an improved understanding of the role of calcium in cardiac physiology.

Indexed as

Calcium ChannelsArrhythmias, CardiacAutistic DisorderBrugada SyndromeCalsequestrinChannelopathiesHeart Conduction SystemHeart Defects, CongenitalHumansLong QT SyndromeReceptors, Adrenergic, betaRisk AssessmentRyanodine Receptor Calcium Release ChannelSyndactylyCalcium ChannelsCalsequestrinCASQ2 protein, humanReceptors, Adrenergic, betaRyanodine Receptor Calcium Release Channel

Identifiers

PMID22733215
OpenAlexW2030926410

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.